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Molecular Genetics and Metabolism
Published by Elsevier.
ISSN 1096-7192 / 1096-7206
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Aims & scope
Molecular Genetics and Metabolism publishes peer-reviewed research. Manuscripts pass a technical check and a scope check by the handling editor before going to independent reviewers.
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Recently published
Biotin-dependent carboxylases and related disorders: Comparative mechanisms and therapeutic advances
DOI 10.1016/j.ymgme.2026.110297 Shuang Tan, Cunshuo Yu, Xiaoqing Li, Suhong Zhu, You Wang · 2026
Clinical and biochemical footprints of inherited disorders of heme synthesis and porphyrias: Insights from the IEMbase and dyadic nomenclature
DOI 10.1016/j.ymgme.2026.110292 Jasmin Barman-Aksözen, Carlos R. Ferreira, Nenad Blau · 2026
Letter: Sapropterin responsiveness testing in phenylketonuria: Unresolved questions on baseline phenylalanine and phenylalanine measurement matrix
DOI 10.1016/j.ymgme.2026.110296 Egidio Candela, Rita Ortolano, Elisa Bortolamedi, Federico Baronio, Giacomo Biasucci · 2026
Measurement of galactose-1-phosphate in dried blood spots by LC-MS/MS: method characteristics and therapeutic range
DOI 10.1016/j.ymgme.2026.110295 Nicholas A. Kent, Mark T. Bolster, Matthew J. Schultz, Dietrich Matern, Patricia L. Hall · 2026
Bone mineral density in children and adults with classic galactosemia
DOI 10.1016/j.ymgme.2026.110299 Nicole H. Smith, Olivia S. Garrett, Yuhan Wu, Jessica B. Spencer, Shanlee M. Davis, Judith L. Fridovich-Keil · 2026
The burden of an ultra-rare inherited skin disorder: Congenital erythropoietic porphyria
DOI 10.1016/j.ymgme.2026.110290 Hetanshi Naik, Sarah D. Huang, Lacey R. Williams, Kristen Wheeden, Angelika L. Erwin · 2026
Empowering children and young people with Erythropoietic Protoporphyria (EPP)/X-linked Erythropoietic Protoporphyria (XLP): Outcomes of attending a disease-specific residential camp
DOI 10.1016/j.ymgme.2026.110284 Victoria A. McGuire, Samuel Morrison, Georgia Newman, Sue Burrell, Claire Jarvis, Liz Gill · 2026
Muscle ATP homeostasis and exercise: insights from ADSS1 myopathy
DOI 10.1016/j.ymgme.2026.110277 David Reiter, Gamze Kilic-Berkmen, Saketh Gudimetla, Ellen J. Hess, H.A. Jinnah · 2026
Breastfeeding infants with inherited metabolic disorders: review of current strategies and practical recommendations to overcome challenges
DOI 10.1016/j.ymgme.2026.110294 Alexander Höller, Fatma Ilgaz, Cyril Marsaux, Sandra Banta-Wright, Turgay Coşkun, Marjorie Dixon, Monika Jörg-Streller, Camille Newby, Rani Singh, Bernd Stahl, Isidro Vitoria-Miñana, Annemiek van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall · 2026
Masculinizing hormone therapy in latent AIP. First case in Argentina
DOI 10.1016/j.ymgme.2026.110282 Laura Varela, Patricia San Martín, Fabiana Caballero, Marcelo Guolo, Ana María Buzaleh, Victoria Parera, Viviana Melito · 2026
Porphyria cutanea tarda: cutaneous manifestations and management
DOI 10.1016/j.ymgme.2026.110276 Lina Rebeiz, Lenore K. Yalom, Amy K. Yeung, Rebecca K. Leaf · 2026
Intravenous hemin for prevention of frequent attacks of acute hepatic porphyria - a double-blind placebo controlled pilot study
DOI 10.1016/j.ymgme.2026.110280 Akshata Moghe, Csilla Kormos-Hallberg, Alejandro Villasante-Tezanos, Karl E. Anderson · 2026
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